[1] This disease is primarily caused by genetic mutations which result in damage to components of the glomerular filtration barrier and allow for leakage of plasma proteins into the urinary space.

[2] Urine protein loss leads to total body swelling (generalized edema) and abdominal distension in the first several weeks to months of life.

Infants may be born prematurely with low birth weight, and have meconium stained amniotic fluid or a large placenta.

[1][3] [1][3] Mutations in the following five genes account for greater than 80% of the genetic causes of congenital nephrotic syndrome:[1] An examination reveals massive fluid retention and generalized swelling.

[1][2] Findings on light microscopy can vary from minimal change nephropathy to focal segmental glomerulosclerosis or diffuse mesangial sclerosis.

[4] Goals of therapy are to control urinary protein loss and swelling, provide good nutrition to allow the child to grow, and prevent complications.

[1][2][3][4] Congenital nephrotic syndrome can be successfully controlled with early diagnosis and aggressive treatment including albumin infusions, nephrectomy, and medications.

[1][4] Most children live fairly normal life post-transplant but will spend significant time hospitalised pre-transplant and have numerous surgeries to facilitate treatment.

[1][2] Nephrotic syndrome typically does not reoccur following kidney transplantation, however recurrences have been seen in children with NPHS1 mutations who develop anti-nephrin antibodies.

[1][3][4] Due to the protein (albumin) losses many patients have reduced muscle tone and may experience delays in certain physical milestones such as sitting, crawling and walking.